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    Alport syndrome

    Hereditary nephritis; Hematuria - nephropathy - deafness; Hemorrhagic familial nephritis; Hereditary deafness and nephropathy

    Alport syndrome is an inherited disorder that damages the tiny blood vessels in the kidneys.

    Causes

    Alport syndrome is an inherited form of kidney inflammation (nephritis). It is caused by a mutation in a gene for a protein in the connective tissue, called collagen.

    The disorder is uncommon. It most often affects males. Women can pass the gene for the disorder to their children, even if they have no symptoms.

    Risk factors include:

    • End-stage kidney disease in male relatives
    • Family history of Alport syndrome
    • Hearing loss before age 30

    Symptoms

    The disorder damages the tiny blood vessels in the glomeruli of the kidneys. The glomeruli filter blood to make urine and remove waste products from the blood.

    At first, there are no symptoms. However, the destruction of the glomeruli over time leads to blood in the urine and may decrease the effectiveness of the kidney's filtering system. Often kidney function is lost over time and waste products and fluids build up in the body.

    In women, the disorder is usually mild, with few or no symptoms. In men, the symptoms are more severe and get worse faster.

    Symptoms include:

    • Abnormal urine color
    • Ankle, feet, and leg swelling
    • Blood in the urine (may be made worse by upper respiratory infections or exercise)
    • Decreased or loss of vision (more common in males)
    • Flank pain
    • Loss of hearing (more common in males)
    • Swelling around the eyes
    • Swelling overall

    The condition can progress to end-stage renal disease (ESRD) at an early age (between adolescence and age 40).

    Note: There may be no symptoms in some cases. Symptoms of chronic kidney failure or heart failure may be present or may develop.

    Exams and Tests

    Signs include:

    • Changes to the eye, including the fundus (back inner part of the eye), cataracts, or bulging of the lens (lenticonus)
    • High blood pressure

    The following tests may be done:

    • Audiometry
    • BUN and serum creatinine
    • Complete blood count
    • Renal biopsy
    • Urinalysis

    Treatment

    The goals of treatment include monitoring and controlling the disease and treating the symptoms. It is most important to strictly control blood pressure. Angiotensin-converting enzyme inhibitors and angiotensin receptor blockers can control blood pressure and slow the rate at which the disease gets worse.

    You may need to treat chronic kidney disease. This can include changing the diet, limiting fluids, and other treatments. Chronic kidney disease will progress to end-stage kidney disease. This will require dialysis or a kidney transplant.

    Surgery to repair cataracts (cataract extraction) or a bulging of the lens in the eye may be needed.

    Hearing loss is likely to be permanent. Counseling and education to increase coping skills can be helpful. Learning new skills such as lip reading or sign language and getting hearing aids may help. Young men with Alport syndrome should use hearing protection in noisy environments.

    Genetic counseling may be recommended because the disorder is inherited.

    Outlook (Prognosis)

    Women usually have a normal lifespan with no signs of the disease except for blood in the urine. Rarely, women will have high blood pressure, swelling, and nerve deafness as a complication of pregnancy.

    In men, deafness, vision problems, and end-stage kidney disease are likely by age 50.

    • Chronic kidney disease
    • Deafness
    • Decrease or loss of vision
    • End-stage renal disease

    When to Contact a Medical Professional

    Call for an appointment with your health care provider if:

    • You have symptoms of Alport syndrome
    • You have a family history of Alport syndrome and you are planning to have children
    • Your urine output decreases or stops or you see blood in your urine (this may be a symptom of chronic kidney disease)

    Prevention

    This uncommon disorder is inherited. Awareness of risk factors, such as a family history of the disorder, may allow the condition to be detected early.

    References

    Appel GB, Radhakrishnan J, D'Agati V. Secondary glomerular disease. In: Brenner BM, ed. Brenner and Rector's the Kidney. 8th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 31.

    Pan CG, Avner ED. Isolated glomerular disease with recurrent gross hematuria. In: Kliegman REm Stanton BF, St. Geme JW III, Schor NF, Behrman RE, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier; 2011:chap 504.

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      • Male urinary system

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      A Closer Look

        Self Care

          Tests for Alport syndrome

            Review Date: 9/8/2013

            Reviewed By: Charles Silberberg, DO, Private Practice specializing in Nephrology, Affiliated with New York Medical College, Division of Nephrology, Valhalla, NY. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Bethanne Black, and the A.D.A.M. Editorial team.

            The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
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